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    Fbn2 fibrillin 2 [ Mus musculus (house mouse) ]

    Gene ID: 14119, updated on 20-Jul-2021

    Summary

    Official Symbol
    Fbn2provided by MGI
    Official Full Name
    fibrillin 2provided by MGI
    Primary source
    MGI:MGI:95490
    See related
    Ensembl:ENSMUSG00000024598
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    s; sy; sne; Fib-; Fib-2; BC063774; mKIAA4226
    Expression
    Biased expression in limb E14.5 (RPKM 40.9), CNS E11.5 (RPKM 13.1) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Fbn2 in Genome Data Viewer
    Location:
    18 D3; 18 32.15 cM
    Exon count:
    66
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (58141689..58343200, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (58008623..58210572, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 18 NC_000084.5 (58168277..58369580, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35751 Neighboring gene solute carrier family 12, member 2 Neighboring gene predicted gene, 41741 Neighboring gene predicted gene, 54032

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA4226

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microfibril ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microfibril TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    fibrillin-2
    Names
    syndatyly ems

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010181.2NP_034311.2  fibrillin-2 precursor

      See identical proteins and their annotated locations for NP_034311.2

      Status: VALIDATED

      Source sequence(s)
      AC102317, AC127358
      Consensus CDS
      CCDS37827.1
      UniProtKB/Swiss-Prot
      Q61555
      Related
      ENSMUSP00000025497.6, ENSMUST00000025497.8
      Conserved Domains (9) summary
      cd11304
      Location:28212868
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:22062245
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:803838
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:17421779
      TB; TB domain
      pfam06247
      Location:12861439
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
      pfam12662
      Location:783806
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:14051440
      EGF_3; EGF domain
      pfam14670
      Location:12391274
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:24822522
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      58141689..58343200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317828.3XP_017173317.1  fibrillin-2 isoform X1

      Conserved Domains (10) summary
      cd11304
      Location:27882835
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:21732212
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:770805
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:9711013
      TB; TB domain
      pfam12662
      Location:750773
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:13721407
      EGF_3; EGF domain
      pfam14670
      Location:12061241
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      pfam18193
      Location:76112
      Fibrillin_U_N; Fibrillin 1 unique N-terminal domain
      cl00057
      Location:24872523
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:285325
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    2. XM_030250333.2XP_030106193.1  fibrillin-2 isoform X2

      Conserved Domains (8) summary
      cd11304
      Location:22032250
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:15881627
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:185220
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:386428
      TB; TB domain
      pfam12662
      Location:165188
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:787822
      EGF_3; EGF domain
      pfam14670
      Location:621656
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:19021938
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
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